@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1391545.RAoM5FfBRyAOpAnb_PkHdf1l3yiRKOgUyEIMb8b9Nx718> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .
@prefix sio: <http://semanticscience.org/resource/> .
@prefix ncit: <http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#> .
@prefix lld: <http://linkedlifedata.com/resource/umls/id/> .
@prefix miriam-gene: <http://identifiers.org/ncbigene/> .
@prefix miriam-pubmed: <http://identifiers.org/pubmed/> .
@prefix eco: <http://purl.obolibrary.org/obo/> .
@prefix wi: <http://purl.org/ontology/wi/core#> .
@prefix prov: <http://www.w3.org/ns/prov#> .
@prefix pav: <http://purl.org/pav/> .
@prefix prv: <http://purl.org/net/provenance/ns#> .
@prefix dcterms: <http://purl.org/dc/terms/> .
@prefix np: <http://www.nanopub.org/nschema#> .
@prefix dgn-np: <http://rdf.disgenet.org/resource/nanopub/> .
@prefix dgn-gda: <http://rdf.disgenet.org/resource/gda/> .
@prefix dgn-void: <http://rdf.disgenet.org/v4.0.0/void/> .
dgn-np:NP1391545.RAoM5FfBRyAOpAnb_PkHdf1l3yiRKOgUyEIMb8b9Nx718130_head {
   this: np:hasAssertion dgn-np:NP1391545.RAoM5FfBRyAOpAnb_PkHdf1l3yiRKOgUyEIMb8b9Nx718130_assertion ;
    np:hasProvenance dgn-np:NP1391545.RAoM5FfBRyAOpAnb_PkHdf1l3yiRKOgUyEIMb8b9Nx718130_provenance ;
    np:hasPublicationInfo dgn-np:NP1391545.RAoM5FfBRyAOpAnb_PkHdf1l3yiRKOgUyEIMb8b9Nx718130_publicationInfo ;
    a np:Nanopublication .
  dgn-np:NP1391545.RAoM5FfBRyAOpAnb_PkHdf1l3yiRKOgUyEIMb8b9Nx718130_assertion a np:Assertion .
  dgn-np:NP1391545.RAoM5FfBRyAOpAnb_PkHdf1l3yiRKOgUyEIMb8b9Nx718130_provenance a np:Provenance .
  dgn-np:NP1391545.RAoM5FfBRyAOpAnb_PkHdf1l3yiRKOgUyEIMb8b9Nx718130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP1391545.RAoM5FfBRyAOpAnb_PkHdf1l3yiRKOgUyEIMb8b9Nx718130_assertion {
   miriam-gene:4014 a ncit:C16612 .
  lld:C0022579 a ncit:C7057 .
  dgn-gda:DGN19e7bfe1d850b0c263b7d9e849d04832 sio:SIO_000628 miriam-gene:4014 , lld:C0022579 ;
    a sio:SIO_001121 .
}
dgn-np:NP1391545.RAoM5FfBRyAOpAnb_PkHdf1l3yiRKOgUyEIMb8b9Nx718130_provenance {
   dgn-np:NP1391545.RAoM5FfBRyAOpAnb_PkHdf1l3yiRKOgUyEIMb8b9Nx718130_assertion dcterms:description "[The recent identification of genetic skin diseases with mutations in the genes encoding some of these proteins, including transglutaminase 1 and loricrin, has disclosed that abnormal cornified cell envelope synthesis is significantly involved in the pathophysiology of certain inherited keratodermas and reflects perturbations in the complex, yet highly orderly process of cornified cell envelope formation in normal skin biology.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
    wi:evidence dgn-void:source_evidence_literature ;
    sio:SIO_000772 miriam-pubmed:9517915 ;
    prov:wasDerivedFrom dgn-void:befree-2016 ;
    prov:wasGeneratedBy eco:ECO_0000203 .
  dgn-void:befree-2016 pav:importedOn "2016-02-19"^^xsd:date .
  dgn-void:source_evidence_literature a eco:ECO_0000212 ;
    rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en ;
    rdfs:label "DisGeNET evidence - LITERATURE"@en .
}
dgn-np:NP1391545.RAoM5FfBRyAOpAnb_PkHdf1l3yiRKOgUyEIMb8b9Nx718130_publicationInfo {
   this: dcterms:created "2016-05-13T12:52:17+02:00"^^xsd:dateTime ;
    dcterms:rights <http://opendatacommons.org/licenses/odbl/1.0/> ;
    dcterms:rightsHolder dgn-void:IBIGroup ;
    dcterms:subject sio:SIO_000983 ;
    prv:usedData dgn-void:disgenetv3.0rdf ;
    pav:authoredBy <http://orcid.org/0000-0001-5999-6269> , <http://orcid.org/0000-0002-7534-7661> , <http://orcid.org/0000-0002-9383-528X> , <http://orcid.org/0000-0003-0169-8159> , <http://orcid.org/0000-0003-1244-7654> ;
    pav:createdBy <http://orcid.org/0000-0003-0169-8159> ;
    pav:version "v4.0.0.0" .
  dgn-void:disgenetv3.0rdf pav:version "v4.0.0" .
}